1. Most human traits are influenced by both genetic and environmental factors.

A)
True
B)
False
2. Alteration of gene sequences in individuals affected by genetic disease:
A)
Demonstrates the importance of environmental factors affecting disease expression.
B)
Can be demonstrated by gene cloning and DNA sequencing.
C)
Are the first line of evidence pursued to determine if the disease is in fact genetic.
D)
All of these.
E)
None of these.
3. Which of these characteristics of Tay-Sachs indicates that it is likely to be genetic?
A)
The frequency of the disorder is approximately 1/3,600 in the Ashenazi Jewish
population, but much less common in other Caucasian populations.
B)
The disorder leads to death at a very young age.
C)
Tay-Sachs often appears in a pedigree with no known family history of the disorder.
D)
All of these.
E)
None of these.
4. Which of the following observations is most conclusive that Gaucher disease is inherited in an
autosomal recessive pattern? (All these observations are of a single family, who all live together).
A)
Brothers David and Joshua are both affected with Gaucher disease.
B)
Mom has no family history of Gaucher disease.
C)
Mom and Dad are both unaffected with Gaucher disease.
D)
The boys experience different severities of the disease.
E)
None of these indicate an autosomal recessive pattern.
5. Which of the following would be most likely to be inherited in an autosomal recessive pattern in
humans?
A)
A mutant gene has a new function that creates a phenotype.
B)
A deletion on the X chromosome inactivates a gene.
C)
A point mutation in a regulatory element reduces the level of gene expression of
a gene on chromosome 12.
D)
None of these.
6. Jeremy's grandfather, uncle, and sister all have been diagnosed with the same genetic disorder.
The most likely pattern of inheritance for this disorder is:
A)
Autosomal dominant, since it is present in all three generations.
B)
Autosomal recessive, since Jeremy's parents are unaffected.
C)
X-linked recessive, since it affects more males than females.
D)
You cannot determine the pattern of inheritance from this information.
7. For most dominant genetic diseases, homozygous dominant individuals are more severely
affected than those that are heterozygous.
A)
True
B)
False

8. Why are males more likely to exhibit an X linked recessive trait than females?
A)
Most genes on the X chromosome are not shared with the Y.
B)
Male sex hormones affect expression of genes from the X chromosome.
C)
X linked traits tend to control male secondary sexual development.
D)
All of these.
E)
None of these.
9. A couple comes to your genetic counseling clinic concerned that they might have a second child
affected with the same X-linked recessive disease displayed by their son. Neither of the parents
displays the trait. What do you tell them?
A)
They have a chance of having another affected chilD. Since it's a recessive trait,
they must both be carriers.
B)
They have a chance of having another affected child but only if the child is a boy.
They could try to select "girl" sperm to avoid the disease.
C)
They have a chance of having another affected child, but only if the child is a girl.
They could try to select "boy" sperm to avoid the disease.
D)
They are not at risk of having another affected child.
10. Genetic heterogeneity could be described as:
A)
A population in which there are several mutant alleles for a specific gene.
B)
A situation where different alleles of a gene cause different severity of disease.
C)
A situation where people with the same genotype might have different phenotypes.
D)
A situation where people with the same phenotype have different genotypes.
11. Prenatal genetic testing requires collection of fetal cells, usually by amniocentesis or chorionic
villus sampling.
A)
True
B)
False
12. Which definition of cancer is the most accurate?
A)
A group of diseases characterized by uncontrolled cell division.
B)
A disorder in which cells produce a localized tumor.
C)
A disorder in which tissues of the body are replaced by nonfunctional cells.
D)
All of these.
E)
None of these.
13. Genes which promote cancer are called:
A)
Tumor suppressors.
B)
Oncogenes.
C)
Growth factors.
D)
Malignancy enhancers.

14. The first oncogene to be identified:

A)
B)
C)
D)
E)

Was c-src.
Causes sarcomas in chickens.
Is normally expressed at high levels in eukaryotic cells.
All of these.
None of these.

15. Rous sarcoma virus (RSV) causes cancer by integrating into genes that normally control cell
division and eliminating their function.
A)
True
B)
False
16. When a cell is stimulated by a growth hormone:
A)
The presence of the hormone directly activates gene expression.
B)
A cascade of protein interactions leads to changes in gene expression.
C)
Cell surface receptors are deactivated.
D)
All of these.
E)
None of these.
17. Activation of a cell signaling pathway in absence of a growth factor signal can lead to
uncontrolled cell division.
A)
True
B)
False
18. Which of these would be likely to lead to oncogenesis?
A)
Reduced levels of function of a repressor of cell division.
B)
A mutation that causes the growth hormone receptor to be constitutively active.
C)
A mutation that prevents activated Ras from being deactivated.
D)
All of these.
E)
None of these.
19. Genetic changes that can convert proto-oncogenes to oncogenes include all of the following
EXCEPT:
A)
Point mutations.
B)
Increase in the copy number of the proto-oncogene.
C)
A change in the relationship between a coding region and regulatory elements.
D)
Deletion of the proto-oncogene.
E)
All of these can convert proto-oncogenes to oncogenes.
20. The breakpoints in the bcr and abl genes that lead to translocation and creation of the
Philadelphia chromosome demonstrate an unusually high level of chromosome breakage.
A)
True
B)
False

21. Which of these factors might influence the creation of translocations known to cause chronic

myelogenous leukemia (the Philadelphia chromosome) and Burkitt's lymphoma?

A)
The sites of translocation show a lower frequency of breakage than other
chromosomal sites.
B)
Sites on non-homologous chromosomes may have enough similarity of sequence to
stimulate "semi-homologous" recombination.
C)
Sister chromatid exchange can occur during mitosis.
D)
All of these.
E)
None of these.
22. The role of a tumor suppressor gene:
A)
Is to encode a protein that stimulates cell division.
B)
Is to prevent mistakes in DNA replication.
C)
Is to allow cell division only under appropriate conditions.
D)
All of these.
E)
None of these.
23. Which of these are likely as a result of the two hit model?
A)
Predisposition to cancer is inherited as a dominant trait.
B)
Tumor formation is inherited as a dominant trait.
C)
Individuals who have inherited a mutant copy of a tumor suppressor are more likely to
develop tumors, but they usually occur at later ages of onset.
D)
All of these.
E)
None of these.
24. What is the normal interaction between the Rb protein and the E2F transcription factor?
A)
Rb inhibits E2F activity, effectively preventing cell division.
B)
Rb enhances E2F activity, effectively preventing cell division.
C)
Rb inhibits E2F activity, increasing the rate of cell division.
D)
Rb enhances E2F activity, increasing the rate of cell division.
25. p53 will stimulate a badly damaged cell to undergo apoptosis rather than proceeding through the
cell cycle.
A)
True
B)
False
26. Which of the following is a common type of tumor suppressor genes?
A)
Genes that increase the rate of the cell cycle or stimulate cell division.
B)
Genes involved in performing DNA synthesis.
C)
Genes involved in maintenance of cell cycle checkpoints.
D)
All of these.
E)
None of these.
27. The difference between benign tumors and malignant cancer is the type of mutation.
A)
True
B)
False

28. Why are cancer cells likely to accumulate mutations, including changes in chromosome number,

over time?
A)
They are less likely to attach chromosomes correctly to the mitotic spindle.
B)
They are more likely to make mistakes in DNA synthesis.
C)
They are allowed to divide despite potential errors in DNA synthesis or spindle
assembly.
D)
All of these.
E)
None of these.
1. State the four common features of an autosomal recessive pattern of inheritance.
Unaffected parents can produce affected offspring;
the average percentage of affected children when both parents are heterozygous carriers is 25%;
two affected parents will have 100% affected offspring;
the trait occurs with equal frequency in both sexes.
Under what circumstances might an individual affected with an autosomal dominant trait not have an
affected parent?
If the trait shows reduced penetrance (such as familial retinoblastoma) if the trait shows highly
variable expression and a mildly affected parent was not correctly diagnosed (such as in
neurofibromatosis Type I), if the individual is affected due to a new mutation (for example, 80% of
cases of achondroplasia are caused by new mutations); rarely false paternity might be suspected.

1. Name the mode of inheritance for Huntington Disease

A.
Autosomal Recessive
B.
Autosomal Dominant
C.
X-Linked Recessive
D.
X-Linked Dominant
2. Name the mode of inheritance for Duchenne Muscular Dystrophy
A.
Autosomal Recessive
B.
Autosomal Dominant
C.
X-Linked Recessive
D.
X-Linked Dominant
3. Name the mode of inheritance for Becker Muscular Dystrophy
A.
Autosomal Recessive
B.
Autosomal Dominant
C.
X-Linked Recessive
D.
X-Linked Dominant
4. Name the mode of inheritance for Beta-Thalassemia
A.
Autosomal Recessive
B.
Autosomal Dominant
C.
X-Linked Recessive
D.
X-Linked Dominant
5. Name the mode of inheritance for Osteogenesis Imperfecta
A.
Autosomal Recessive
B.
Autosomal Dominant
C.
X-Linked Recessive
D.
X-Linked Dominant

6. Name the mode of inheritance for Alpha 1-antitrypsin deficiency

A.
Autosomal Recessive
B.
Autosomal Dominant
C.
X-Linked Recessive
D.
X-Linked Dominant
7. Name the mode of inheritance for Cystic Fibrosis
A.
Autosomal Recessive
B.
Autosomal Dominant
C.
X-Linked Recessive
D.
X-Linked Dominant
8. Name the mode of inheritance for Phenylketonuria
A.
Autosomal Recessive
B.
Autosomal Dominant
C.
X-Linked Recessive
D.
X-Linked Dominant
9.
This patient most likely has?
A.
Down Syndrome
B.
Patau Syndrome
C.
Edwards Syndrome
D.
Alejo Syndrome
10.
This patient has?
A.
Nothing, normal patient
B.

Kleinfelter Syndrome
C.
Turner Syndrome
D.
Patau Syndrome
11. Patients with Kleinfelter Syndrome are typically female
A.
True
B.
False
12. A patient (age 41) presents with jerky, random, and uncontrollable movements or chorea,
Psychomotor functions have become increasingly impaired over the past few years, such that any
action that requires muscle control is affected. Common consequences are physical instability,
abnormal facial expression, and difficulties chewing, swallowing and speaking. The Patient has one
parent who died at 44 after exhibiting similar symptoms. This patient may be exhibiting symptons of
A.
Cystic Fibrosis
B.
Huntingtons Diseas
C.
Muscular Dystrophy
D.
Beta-Thalassemia
13. Huntingtons Disease results from a mutation in the Huntingtin gene
A.
True
B.
False
14. Patient is a male child whose symptons began before age 5 and were visible in early infancy.
Progressive proximal muscle weakness of the legs and pelvis associated with a loss of muscle mass
was observed first. Eventually this weakness spreads to the arms, neck, and other areas. Early signs
included pseudohypertrophy (enlargement of calf and deltoid muscles), low endurance, and
difficulties in standing unaided or inability to ascend staircases. As the condition progressed, muscle
tissue experienced wasting and was eventually replaced by fat and fibrotic tissue (fibrosis). By age
10, braces were required to aid in walking until the patient became wheelchair dependent by age 12.
Later symptoms included abnormal bone development that lead to skeletal deformities, including
curvature of the spine. Due to progressive deterioration of muscle, loss of movement occured,
eventually leading to paralysis. This patient is potentially exhibiting symptoms of?
A.
Huntington Disease
B.
Duchenne Muscular Dystrohpy
C.
Cystic Fibrosis
D.
Familial Hypercholesterolemia

15. Beckers muscular dystrophy is milder than Duchenne muscular dystrophy

A.
True
B.
False
16. Which of the following syndromes is the most commonly known single gene cause of autism
A.
Fragile X syndrome
B.
Alpha 1-antitrypsin deficiency
C.
Prader-Willi Syndrome
D.
DiGeorge Syndrome
17. Which of the following is a disease of Type 1 collagen?
A.
Osteogenesis imperfecta
B.
Muscular Dystrophy
C.
Cystic Fibrosis
D.
Prader-Willi Syndrome
18. Patient presents with symptoms that include shortness of breath, wheezing, rhonchi, and rales.
The patient's symptoms resemble recurrent respiratory infections or asthma that does not respond to
treatment. Patient has before been labeled as COPD with no underlying cause. Patient developed
emphysema during their thirties even without a history of significant smoking. Patient seems not
particulary able to protect lungs from neutrophil elastase. This patient most likely has?
A.
Cystic Fibrosis
B.
DiGeorge Syndrome
C.
Alpha-1-Antitrypsin Deficiency
D.
Muscular Dystrophy
19. An Irish patient presents with salty tasting skin,[6] poor growth and poor weight gain despite a
normal food intake,[7] accumulation of thick, sticky mucus,[8] frequent chest infections and
coughing or shortness of breath. Genetic testing shows a mutation on both alleles of chromosome 7.
This patient potentially has
A.
Cystic Fibrosis
B.
Muscular Dystrophy
C.

Huntingtons Disease
D.
Familial Hypercholestolemia
20. A patient presents with high cholesterol levels, specifically very high levels of low-density
lipoprotein (LDL, "bad cholesterol"), in the blood and early cardiovascular disease. Genetic analysis
shows mutations in the LDLR gene that encodes the LDL receptor protein, This patient potentially
has
A.
Cystic Fibrosis
B.
Muscular Dystrophy
C.
Huntingtons Disease
D.
Familial Hypercholestolemia
21. Which is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome
15 (q 11-13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal
chromosome?
A.
Prader-Willi Syndrome
B.
Angleman's Syndrome
C.
DiGeorge Syndrome
D.
Duchenne Muscular Dystrophy
22. Whichsyndrome is a syndrome caused by the deletion of a small piece ofchromosome 22. The
deletion occurs near the middle of the chromosome ata location designated q11.2 i.e.,on the long arm
of one of the pair of chromosomes 22?
A.
DiGeorge Syndrome
B.
Prader-Willi Syndrome
C.
Kleinfelter Syndrome
D.
Familial Hypercholesterolemia
23. Which disease in treated in part by a low-phenylalanine diet?
A.
Cystic Fibrosis
B.
Osteogenesis Imperfecta
C.
Familial Hypercholesterolemia
D.
Phenylketonuria

Which of the following syndromes is the most commonly known single gene cause of autism
A. DiGeorge Syndrome B. Alpha 1-antitrypsin deficiency C. Prader-Willi Syndrome D. Fragile X
syndrome
Which is a rare genetic disorder in which seven genes (or some subset thereof) on chromosome 15 (q
11-13) are deleted or unexpressed (chromosome 15q partial deletion) on the paternal chromosome?
A. Duchenne Muscular Dystrophy B. DiGeorge Syndrome C. Prader-Willi Syndrome D.
Angleman's Syndrome